Incidental Mutation 'IGL01601:Commd1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Commd1
Ensembl Gene ENSMUSG00000051355
Gene NameCOMM domain containing 1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01601
Quality Score
Chromosomal Location22896136-22982382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22899981 bp
Amino Acid Change Glutamic Acid to Glycine at position 234 (E234G)
Ref Sequence ENSEMBL: ENSMUSP00000053606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057843] [ENSMUST00000071068] [ENSMUST00000159081] [ENSMUST00000160826]
Predicted Effect probably damaging
Transcript: ENSMUST00000057843
AA Change: E234G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355
AA Change: E234G

low complexity region 2 22 N/A INTRINSIC
Pfam:HCaRG 44 238 1.2e-28 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000071068
AA Change: E84G
SMART Domains Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355
AA Change: E84G

low complexity region 2 17 N/A INTRINSIC
Pfam:HCaRG 57 89 2.2e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159081
AA Change: E179G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355
AA Change: E179G

Pfam:HCaRG 12 184 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160826
SMART Domains Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

Pfam:HCaRG 1 99 1.3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162924
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal with growth retardation, failure to turn, increased apoptosis in brain mesenchyme and defects in extraembryonic tissue development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,193,478 C104S unknown Het
Adgrf2 T C 17: 42,710,049 D628G probably benign Het
Aldh1l1 T A 6: 90,591,841 I708N probably damaging Het
Ank3 T A 10: 70,004,725 F985I possibly damaging Het
Arap2 A G 5: 62,641,342 W1315R probably damaging Het
Arhgef33 C A 17: 80,347,683 Q106K probably damaging Het
Atad5 G A 11: 80,095,517 G477S probably benign Het
Chgb T A 2: 132,793,491 I451K probably benign Het
Cln6 T A 9: 62,846,970 I98N probably damaging Het
Dock2 C A 11: 34,239,528 probably null Het
Flrt2 T C 12: 95,779,595 S236P probably damaging Het
Garnl3 G A 2: 32,997,689 Q770* probably null Het
Gpr22 C T 12: 31,710,045 probably benign Het
Hmcn1 A T 1: 150,627,413 D3880E probably benign Het
Lgals8 T C 13: 12,456,338 probably benign Het
Mccc1 A G 3: 35,989,952 V214A probably benign Het
Nat8l T C 5: 33,998,465 L155P probably damaging Het
Nckipsd A G 9: 108,813,955 S359G probably benign Het
Pex6 A C 17: 46,723,724 N785T probably damaging Het
Ptprz1 T A 6: 23,000,438 H842Q probably damaging Het
Rhno1 A T 6: 128,358,058 S101T probably damaging Het
Rnf103 T G 6: 71,509,183 V266G probably damaging Het
Slc25a39 T C 11: 102,405,718 D100G probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Svep1 C T 4: 58,084,872 G1822E probably damaging Het
Tbl3 T A 17: 24,702,317 D500V probably damaging Het
Tmc5 T C 7: 118,623,824 probably benign Het
Usp20 C T 2: 31,011,794 R524W probably benign Het
Wnk2 G T 13: 49,076,562 P829T probably damaging Het
Zmiz1 A G 14: 25,581,644 N84S possibly damaging Het
Other mutations in Commd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02275:Commd1 APN 11 22900017 missense probably damaging 1.00
R3702:Commd1 UTSW 11 22974057 missense probably damaging 1.00
R3763:Commd1 UTSW 11 22974102 missense probably benign 0.14
R7853:Commd1 UTSW 11 22956532 missense possibly damaging 0.61
R8353:Commd1 UTSW 11 22978503 intron probably benign
R8370:Commd1 UTSW 11 22982104 missense probably damaging 1.00
R8453:Commd1 UTSW 11 22978503 intron probably benign
Posted On2013-12-09